Found: 26
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Reduced kinase function in two ultra‐rare TNNI3K variants in families with congenital junctional ectopic tachycardia.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 37, doi. 10.1111/cge.14504
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- Publication type:
- Article
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1072, doi. 10.1093/hmg/ddac261
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- Publication type:
- Article
Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 1, p. e2252724, doi. 10.1001/jamanetworkopen.2022.52724
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- Publication type:
- Article
The earliest events in BRAF‐mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.
- Published in:
- Journal of Pathology, 2022, v. 257, n. 2, p. 239, doi. 10.1002/path.5881
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- Publication type:
- Article
The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6422, doi. 10.3390/ijms22126422
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- Publication type:
- Article
Low human dystrophin levels prevent cardiac electrophysiological and structural remodelling in a Duchenne mouse model.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89208-1
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- Article
Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.
- Published in:
- 2021
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- Publication type:
- journal article
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
- Published in:
- 2021
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- Publication type:
- journal article
Biomarkers in inherited arrhythmias: necessity for validation and collaboration.
- Published in:
- European Heart Journal, 2020, v. 41, n. 47, p. 4523, doi. 10.1093/eurheartj/ehaa708
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- Publication type:
- Article
Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.
- Published in:
- PLoS ONE, 2020, v. 15, n. 11, p. 1, doi. 10.1371/journal.pone.0242167
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- Publication type:
- Article
A highly specific biomarker for Brugada syndrome. Also too good to be true?
- Published in:
- European Heart Journal, 2020, v. 41, n. 30, p. 2891, doi. 10.1093/eurheartj/ehaa468
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- Publication type:
- Article
From Genome-Wide Association Studies to Cardiac Electrophysiology: Through the Maze of Biological Complexity.
- Published in:
- Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00557
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- Publication type:
- Article
Correction: Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure.
- Published in:
- PLoS ONE, 2020, v. 15, n. 2, p. 1, doi. 10.1371/journal.pone.0226936
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- Publication type:
- Article
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1836, doi. 10.1002/ajmg.a.61294
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- Publication type:
- Article
Aquaporin Channels in the Heart—Physiology and Pathophysiology.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 2039, doi. 10.3390/ijms20082039
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- Publication type:
- Article
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08547-w
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- Article
Systems Genetics Approaches in Rat Identify Novel Genes and Gene Networks Associated With Cardiac Conduction.
- Published in:
- 2018
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- Publication type:
- journal article
Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.
- Published in:
- Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1286-z
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- Publication type:
- Article
Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell–Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease–Causing Mutation.
- Published in:
- Journal of the American Heart Association, 2017, v. 6, n. 7, p. 1, doi. 10.1161/JAHA.116.005135
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- Publication type:
- Article
Genome-Wide Identification of Expression Quantitative Trait Loci (eQTLs) in Human Heart.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097380
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- Publication type:
- Article
Genomics of cardiac electrical function.
- Published in:
- Briefings in Functional Genomics, 2014, v. 13, n. 1, p. 39, doi. 10.1093/bfgp/elt029
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- Publication type:
- Article
Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 12, p. 1, doi. 10.1371/journal.pgen.1003113
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- Publication type:
- Article
Intercalated disc abnormalities, reduced Na+ current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes.
- Published in:
- Cardiovascular Research, 2012, v. 95, n. 4, p. 409, doi. 10.1093/cvr/cvs219
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- Publication type:
- Article
Mouse models in arrhythmogenic right ventricular cardiomyopathy.
- Published in:
- Frontiers in Physiology, 2012, v. 3, p. 1, doi. 10.3389/fphys.2012.00221
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- Publication type:
- Article
Clinical Assessment of the Pathogenicity of Unknown Variants in Long-QT Syndrome: Does the Pendulum Swing Back?
- Published in:
- Journal of Cardiovascular Electrophysiology, 2012, v. 23, n. 6, p. 643, doi. 10.1111/j.1540-8167.2011.02283.x
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- Publication type:
- Article